HRA001248
Title:
Polymorphisms and haplotype of mitochondrial DNA D-loop region are associated with polycystic ovary syndrome in a Chinese population
Release date:
2021-09-23
Description:
Polymorphisms in mitochondrial DNA (mtDNA) have been linked to a range of diseases. Here we investigate the relationship between mtDNA D-loop region polymorphisms, mtDNA haplotype and polycystic ovary syndrome (PCOS), as well as the correlation of D-loop variants and clinical characteristics of PCOS, in a Chinese population. The mtDNA D-loop of whole blood samples from 421 PCOS patients and 409 controls underwent next generation sequencing. The variants G207A, 16036GGins and 16049Gins were associated with decreased risk of PCOS. No variants were associated with PCOS, and within the PCOS group, no statistical significance was found between D-loop polymorphisms and clinical characteristics. Patient haplotype was identified from D-loop single nucleotide polymorphisms and analysis suggested that haplotype A15 was significantly associated with decreased risk of PCOS. In conclusion, mtDNA D-loop alterations and haplotype appear to confer resistance to PCOS in Chinese women.
Data Accessibility:   
Controlled access Request Data
BioProject:
Study type:
Disease Study
Disease name:
polycystic ovary syndrome
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
DAC name:
Dongmei Ji
Contact person:
Ji Dongmei
Email:
cahsxjdm@aliyun.com
Description:
mitochondrial research
Individuals & samples
Submitter:   Ji Dongmei / cahsxjdm@aliyun.com
Organization:   The First Affiliated Hospital of Anhui Medical University
Submission date:   2021-07-10
Requests:   -